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Researchers treat osteogeneis imperfecta babies in utero by injecting bone-forming stem cells

Osteogeneis imperfecta (OI) is a congenital bone disease that causes stunted growth and repeated, painful fracturing. Ultrasound scans can reveal fractures already in the fetus, and now an international team of researchers from Sweden, Singapore and Taiwan have treated two babies in utero by injecting bone-forming stem cells.

17 Dec 2013

Johns Hopkins researchers use lung cancer drug to shrink chordoma in mice

Johns Hopkins researchers say that a drug approved to treat lung cancer substantially shrank tumors in mice that were caused by a rare form of bone cancer called chordoma.

12 Dec 2013

GW Pharmaceuticals receives U.S. patent for treating glioma

GW Pharmaceuticals plc, a biopharmaceutical company focused on discovering, developing and commercializing novel therapeutics from its proprietary cannabinoid product platform, announced that the United States Patent and Trademark Office (USPTO) has issued a Notice of Allowance for U.S. Application Serial Number 12/996,124, a patent which covers the use of cannabinoids for treating glioma.

11 Dec 2013

Baxter seeks FDA approval of OBI-1 for adults with acquired hemophilia A

Baxter International Inc. today announced that the company has submitted a biologics license application (BLA) to the U.S. Food and Drug Administration (FDA) for the approval of OBI-1, a recombinant antihemophilic porcine sequence factor VIII, in patients with acquired hemophilia A.

From Baxter International Inc. 11 Dec 2013

New drug that blocks defective gene can arrest Waldenstrom's Macroglobulinemia in animal models

In nearly one-third of patients with Waldenstrom's Macroglobulinemia, a specific genetic mutation switches on the disease, and a new drug that blocks the defective gene can arrest the disease in animal models, researchers at Dana-Farber Cancer Institute and allied institutions will report at the 2013 annual meeting of the American Society of Hematology.

10 Dec 2013

Saudi Human Genome Program to study genetic basis of all disease in the Kingdom

The King Abdulaziz City for Science and Technology, Saudi Arabia's national funding agency, and Life Technologies Corporation today announce The Saudi Human Genome Program – a national research project to study the genetic basis of all disease in the Kingdom and throughout the Middle East and use the findings to offer the ultimate personal care in Saudi Arabia.

8 Dec 2013

Medicines for rare diseases may be effectively valued using multi-criteria decision analysis

A study just published by the Office of Health Economics and its collaborators demonstrates how medicines for rare disease may be effectively valued using an innovative approach -- multi-criteria decision analysis -- that can include all relevant stakeholders, including patients' groups.

5 Dec 2013

Tackling orphan diseases: an interview with Damian Marron, CEO, TxCell

The exact definition of orphan diseases varies depending on where you are in the world. In the EU it's defined as a prevalence of less than 1 in 2,000, which equates to about 250,000 patients across the EU.

4 Dec 2013

Lord Walton of Detchant receives honorary degree from Northumbria University

Northumbria University, Newcastle has today awarded Lord Walton of Detchant with an honorary degree in recognition of his long career as a world-leading neurologist.

4 Dec 2013

Lucane Pharma, Medunik Canada to offer new therapeutic option for patients suffering from UCD

Medunik Canada, a pharmaceutical company specialized in orphan drugs and Lucane Pharma, a French niche pharmaceutical company, announced the conclusion of an exclusive collaboration agreement.

4 Dec 2013

EORTC hosts joint session with ESTRO to focus on latest developments in soft tissue sarcoma treatment

The EORTC will host a joint session with ESTRO at ESTRO 33 focusing on current developments in soft tissue sarcoma treatment. It will take place from 14:30- 16:00 on Monday, 07 April 2014 in Vienna, Austria and will be co-chaired by Professors Jean-Yves Blay of the Centre Leon Berard in Lyon, France and past EORTC President and Philippe Maingon of the Centre Georges-Fran-ois-Leclerc in Dijon, France, and Chair of the EORTC Radiation Oncology Group.

3 Dec 2013

Caregivers selected to receive the 2013 Shire BRAVE Awards

Selflessness, determination, courage and hope. These are among the qualities that describe the eighteen caregivers from around the world who have been selected as recipients of the 2013 Shire BRAVE Awards, an international program that honors the bravery and devotion of non-professional carers.

27 Nov 2013

FDA grants Orphan Drug Designation to CMC Contrast's CMC-001 MRI contrast media

CMC Contrast AB, a privately owned drug development company that is developing a targeted contrast agent for Magnetic Resonance Imaging (MRI), announced today that Orphan Drug Designation has been granted by the US Food and Drug Administration (FDA) for its liver specific contrast agent CMC-001.

27 Nov 2013

FDA grants priority review status to Avedro's riboflavin ophthalmic solution/KXL system

Avedro Inc, a Boston-based ophthalmic medical device and pharmaceutical company announces that it received notification from the U.S. Food and Drug Administration stating that their NDA for riboflavin ophthalmic solution/KXL system has been filed, and has been granted priority review status. The priority review status places the application action date at March 15th, 2014.

25 Nov 2013

Elsevier launches new open access journal dedicated to urology

Elsevier, a world-leading provider of scientific, technical and medical information products and services, today announced the launch of a new open access journal: Urology Case Reports.

25 Nov 2013

CHMP recommends approval of Otsuka's Deltyba for pulmonary multidrug-resistant tuberculosis

Otsuka Pharmaceutical Co., Ltd. today announced that the Committee for Medicinal Products for Human Use of the European Medicines Agency has recommended approval of Deltyba (delamanid) in combination with a WHO recommended optimized background regimen for the treatment of pulmonary multidrug-resistant tuberculosis (MDR-TB). The CHMP opinion will help form the basis for a European Commission decision expected early next year.

25 Nov 2013

Longer looks: Parents' crusade on rare diseases; fighting obesity; experts' view of alternative medicine

In the beginning, Chris Hempel noticed the clumsiness. Her girls tripped over toys on the floor. Their grandfather said he couldn't teach them to pedal their tricycles. … The Hempels learned of people who called themselves citizen-scientists. Many shared research papers and their day-to-day experience. Some talked of their willingness to try any promising drug. Others sought a role as equal partners with researchers. Scientists, while sympathetic, generally believe their work should be left to experts. Families are encouraged to raise money if they want to help, but the traditional view is that amateurs can't shape research or find cures. The Hempels found a maddening gap between the search for scientific knowledge and the search for treatments (Amy Docker Marcus, 11/2013).

22 Nov 2013

NYSCF partners with NIH to generate stem cell for treating rare diseases

In what is anticipated to be a major step forward for rare disease research, The New York Stem Cell Foundation (NYSCF) Research Institute is partnering with the National Institutes of Health (NIH) Undiagnosed Disease Program (UDP).

22 Nov 2013

Scientists join patients to address Friedreich's Ataxia

The Spanish Federation of Ataxia (FEDAES)—in representation of the GENEFA Platform for a Friedreich's Ataxia cure—, the Babel Family association for biomedical research into Friedreich's Ataxia, the "Centro de Biología Molecular Severo Ochoa" (CMBSO), and the Institute for Research in Biomedicine (IRB Barcelona) have signed an agreement through which these patients' associations will fund, by means of donations, a 3-year research project addressing Friedreich's Ataxia.

16 Nov 2013

New research devises effective way to evaluate severity of pulmonary hypertension

An aim to improve the outlook for people suffering from pulmonary hypertension is the focus of research at Griffith University.

14 Nov 2013

Rare Disease News and Research

Researchers treat osteogeneis imperfecta babies in utero by injecting bone-forming stem cells

Johns Hopkins researchers use lung cancer drug to shrink chordoma in mice

GW Pharmaceuticals receives U.S. patent for treating glioma

Baxter seeks FDA approval of OBI-1 for adults with acquired hemophilia A

New drug that blocks defective gene can arrest Waldenstrom's Macroglobulinemia in animal models

Saudi Human Genome Program to study genetic basis of all disease in the Kingdom

Medicines for rare diseases may be effectively valued using multi-criteria decision analysis

Tackling orphan diseases: an interview with Damian Marron, CEO, TxCell

Lord Walton of Detchant receives honorary degree from Northumbria University

Lucane Pharma, Medunik Canada to offer new therapeutic option for patients suffering from UCD

EORTC hosts joint session with ESTRO to focus on latest developments in soft tissue sarcoma treatment

Caregivers selected to receive the 2013 Shire BRAVE Awards

FDA grants Orphan Drug Designation to CMC Contrast's CMC-001 MRI contrast media

FDA grants priority review status to Avedro's riboflavin ophthalmic solution/KXL system

Elsevier launches new open access journal dedicated to urology

CHMP recommends approval of Otsuka's Deltyba for pulmonary multidrug-resistant tuberculosis

Longer looks: Parents' crusade on rare diseases; fighting obesity; experts' view of alternative medicine

NYSCF partners with NIH to generate stem cell for treating rare diseases

Scientists join patients to address Friedreich's Ataxia

New research devises effective way to evaluate severity of pulmonary hypertension

Discover how SciY empowers scientists

Why use light scattering to analyze proteins and viral vectors?

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